Suchergebnisse - "Raskin, Salmo"

PubPharm (212)

1

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome : an International Replication Repair Deficiency Consortium cohort study

enthalten in: The Lancet. Oncology | 2024

von Ercan, A. | Aronson, M. | Fernandez, N. | +98

2

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients

enthalten in: Parkinsonism & related disorders | 2024

von Novis, L. | Alavi, S. | Pellerin, D. | +6

3

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

enthalten in: Movement disorders : official journal of the Movement Disorder Society | 2024

von Tolonen, J. | Parolin Schnekenberg, R. | McGowan, S. | +46

4

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

enthalten in: Movement Disorders | 2024

von Tolonen, J. | Parolin Schnekenberg, R. | McGowan, S. | +45

5

New Horizons on the Diagnosis of Hereditary Ataxia

enthalten in: Movement disorders clinical practice | 2023

von Novis, L. | Raskin, S. | Teive, H.

6

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

enthalten in: Neurology. Genetics | 2023

von Novis, L. | Frezatti, R. | Pellerin, D. | +17

7

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

enthalten in: Annals of clinical and translational neurology | 2023

von Efthymiou, S. | Novis, L. | Koutsis, G. | +13

8

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

enthalten in: JAMA neurology | 2023

von Akula, S. | Chen, A. | Neil, J. | +129

9

A Teenager with Benign Hereditary Chorea and Selective Tooth Agenesis Type 3

enthalten in: Movement disorders clinical practice | 2023

von Andreucci Martins Bonilha, P. | Martins Nunes, T. | Cassarotti, B. | +4

10

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses : Novel candidate genes, genotype-phenotype correlations and common mechanisms

enthalten in: American journal of medical genetics. Part A | 2023

von Kaur, M. | Blair, J. | Devkota, B. | +94

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[22]